I'm Kati Wilkins, and recently a dear friend from my days living in Sweden reached out to me about a colleague's daughter who has a rare genetic disorder. Beautiful Ayah just turned 1 this January, and needs help getting treatment for her disorder. The family lives next-door in Denmark, and the most effective treatment is currently not approved in her country, so she hopes to bring her daughter here to the US for treatment. The problem is, the treatment she needs is one of the most expensive in the world!
This GoFundMe account is to help Ayah's family raise the funding needed for her treatment and associated travel expenses. Times are tough for everyone, but if you're able to spare some extra funds, please do so. Also, please share this story widely. Also, please be sure to read their story below. Anything you can give helps! We are trying to raise $2.4 million for little Ayah's rare medical condition, so any help you can give will go a long ways.
This is Ayah (born on January 15, 2020), a bubbly little princess who likes to smile a lot. Ayah has a rare genetic and degenerative disorder called SMA (Spinal Muscular Atrophy) type 2.
SMA is a rare genetic disease that affects the central nervous system, voluntary skeletal muscle movement, and the peripheral nervous system (the connection between the central nervous system and the rest of the body). As a result, SMA affects basic motor functions such as walking, hand movements and feeding. After progression, the patients lose the ability to swallow, breathe and eventually die.
SMA affects one in 10,000 live births and cannot be cured. However, today patients are given treatment options to prevent further progression, as any damage caused by the disease is irreversible.
Ayah developed like a normal child by age and achieved the appropriate milestones. After 10 months, Ayah was diagnosed with SMA through genetic testing after we questioned her sudden regress of achieved developmental milestones and minimal use of her legs. Prior to this, we had never heard of SMA.
Since the diagnosis, Ayah has been put on Spinraza, a prescription drug administered as a spinal injection throughout a patient’s life. Spinraza increases the ability of the SMN2 gene (which is a back up of the SMN1 gene-the one that Ayah is missing) to produce SMN protein which in turn improves motor functions and survival.
Zolgensma is a new one time gene therapy treatment for kids under the age of 2. It REPLACES the missing SMN1 gene with a new, working copy that helps motor neuron cells work properly and survive but it’s currently the most expensive drug in the world at $2.1 million. It is NOT a cure since it does not reverse damage already caused by SMA before treatment. However, with supportive therapy, it has by far shown the best results. It is recommended that the earlier the patient receives the treatment, the better.
We are fortunate and grateful to the Danish healthcare system for giving Ayah Spinraza. However as parents, we cannot leave the approval of gene therapy in Denmark to chance and hope that, it will be ready before Ayah turns 2 years old. As any parent, we wish the best for our child, but even more so in regards to her health. Besides Zolgensma only having to be administered once, it has proven to be the most effective in clinical testing.